Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.29 (A)
Location

Chromosome 5:79126136 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM031139

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 6 transcripts, has 4067 sample genotypes and is mentioned in 42 citations.

Variant displays